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Project Leader: Dr Noémi Roy, NIHR Clinical Lecturer

Noémi’s research focuses on rare inherited anaemias, in particular looking for new genes not previously known to cause anaemia. By trying to understand these mutations, she is hoping to better unravel the normal processes by which red blood cells develop. Ultimately this could lead to new treatments for patients with both inherited or acquired anaemias, or help grow red blood cells in the lab to be used for transfusion, thus reducing dependence on blood donors.

The stream of the project which looks for new genes causing anaemia starts with a new diagnostic test which is being developed in the molecular haematology diagnostic lab, aimed at picking up mutations in 30 anaemia genes by next-generation sequencing.  Patients with evidence of inherited anaemias which do not have mutations in any of those known genes are then subjected to whole exome sequencing, a powerful technique for studying the entire coding sequence of the genome.  Through appropriate bioinformatics filtering, candidate genes are narrowed down until the causative gene is identified. This technique has recently led to the discovery of a new gene for Diamond-Blackfan anaemia (Sankaran et al.). 

Noémi’s research also involves studying LPIN2, a gene which when mutated causes Majeed Syndrome – a combination of anaemia and recurrent bony inflammation.  LPIN2 is involved in fatty acid metabolism but the role it plays in red cell development is completely unknown.

January 2013

PP Roy gel

Agarose gel of patients being tested for mutations in CDAN1, a gene causing congenital dyserythropoietic anaemia type 1.